Retinal disorders

Gene: KIZ

Comment on list classification: Promoted from red to green based on evidence provided by Mohammed Abdallah (Divsion of Human Genetics, university of Cape Town). The gene was previously classified as non-coding because of problems with Ensembl grch37 release; however, that has been fixed now and it is an actual gene.

Created: 30 Oct 2019, 2:32 p.m. | Last Modified: 30 Oct 2019, 2:32 p.m.

Panel Version: 1.203

Green List (high evidence)

Although this gene is reported under the specified human phenotype ontology, and Retnet genes, it had the misfortune of being classified historically as non-coding gene in the Ensembl grch37 release, which has been archived since then, However, when consulting the new hg38 Ensembl release and both Refseq grch37 and grch38 we can clearly see that this gene is actually an important protein-coding gene that has been identified as a causal gene for Retinitis pigmentosa. Moreover it has three pathogenic mutations reported in Clinvar and from more than three unrelated families reported by three different and independent studies.

Created: 9 Oct 2019, 12:10 p.m. | Last Modified: 9 Oct 2019, 12:11 p.m.

Panel Version: 1.199

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Phenotypes (HP:0000556; HP:0000510)

Publications

• PMID ( 31556760
• 29057815
• 28837078
• 24680887)

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

I don't know

non-coding gene? Is this real?

Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.

Panel Version: 1.159